187例介入性产前诊断双胎的染色体核型和染色体微阵列结果分析
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摘要
目的探讨染色体核型分析和染色体微阵列分析(CMA)对于双胎妊娠的产前诊断价值。方法回顾性分析187例产前诊断双胎孕妇(374个胎儿)的染色体G显带和染色体微阵列检测结果。结果 374个胎儿染色体G显带分析结果共检出31个异常核型胎儿(8.29%,31/374)。异常核型中数目异常19个(61.29%,19/31);嵌合体4个(12.90%,4/31);结构异常10个(32.26%,10/31)。374个胎儿染色体微阵列分析结果中,异常结果有36例(9.63%,36/374)。36个异常结果中数目异常18个(50%,18/36),嵌合体异常3个(8.33%,4/36),结构异常15个(41.67%,15/36)。在染色体核型正常的343个胎儿中,共检出CMA异常胎儿11个,额外检出率为3.21%(11/343)。联合两种检测方法结果,374个胎儿中共检测出异常胎儿42个,总异常率11.23%(42/374)。结论对于有指征的双胎孕妇,应更严格地进行介入性产前诊断,建议其同时联合染色体核型和染色体微阵列检测,减少出生缺陷的发生。
Objective To explore the value of chromosomal karyotyping and chromosomal microarray analysis(CMA)for prenatal diagnosis of twin pregnancy.Methods The results of chromosome G-banding and chromosome microarray in 187 prenatal twin pregnant women(374 fetuses)were analyzed retrospectively.Results A total of 31 abnormal karyotypes were found in G-banding analysis of 374 fetal chromosomes,and the abnormal rate was 8.29%(31/374).The abnormal karyotypes included 19 cases of aneuploidies,accounting for 61.29%(19/31),4 cases were mosaicism,accounting for 12.90%(4/31),and 10 cases were structural abnormalities,accounting for 32.26%(10/31).Among 374 fetal chromosome microarray analysis results,36 cases had abnormal results,and the abnormal rate was 9.63%(36/374).Among the 36 abnormalities,there were18 aneuploidies(50%,18/36),3 mosaicism(8.33%,4/36),and 15 structural abnormalities(41.67%,15/36).Among 343 fetuses with normal chromosome karyotype,11 fetuses with abnormal CMA were detected,with an additional detection rate of 3.21%(11/343).In the combination with the results of the two detection methods,a total of 42 abnormal fetuses were detected in 374 fetuses,and the total abnormal rate was 11.23%(42/374).Conclusion For twin pregnant women with indications,the interventional prenatal diagnosis should be more rigorous.It is recommended to combine karyotype and chromosome microarray detection to reduce the occurrence of birth defects.
Objective To explore the value of chromosomal karyotyping and chromosomal microarray analysis(CMA)for prenatal diagnosis of twin pregnancy.Methods The results of chromosome G-banding and chromosome microarray in 187 prenatal twin pregnant women(374 fetuses)were analyzed retrospectively.Results A total of 31 abnormal karyotypes were found in G-banding analysis of 374 fetal chromosomes,and the abnormal rate was 8.29%(31/374).The abnormal karyotypes included 19 cases of aneuploidies,accounting for 61.29%(19/31),4 cases were mosaicism,accounting for 12.90%(4/31),and 10 cases were structural abnormalities,accounting for 32.26%(10/31).Among 374 fetal chromosome microarray analysis results,36 cases had abnormal results,and the abnormal rate was 9.63%(36/374).Among the 36 abnormalities,there were18 aneuploidies(50%,18/36),3 mosaicism(8.33%,4/36),and 15 structural abnormalities(41.67%,15/36).Among 343 fetuses with normal chromosome karyotype,11 fetuses with abnormal CMA were detected,with an additional detection rate of 3.21%(11/343).In the combination with the results of the two detection methods,a total of 42 abnormal fetuses were detected in 374 fetuses,and the total abnormal rate was 11.23%(42/374).Conclusion For twin pregnant women with indications,the interventional prenatal diagnosis should be more rigorous.It is recommended to combine karyotype and chromosome microarray detection to reduce the occurrence of birth defects.
引文
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[11]王游声,唐斌,郭莉,等.染色体核型分析及array_CGH在超声异常胎儿诊断中的应用[J].中华医学遗传学杂志,2017,34(4):550-553.
[12]刘静,席惠,王华,等.SNP_array在胎儿超声异常及孕妇不良生育史产前诊断中的应用研究[J].中华医学遗传学杂志,2017,34(2):173-177.
[13]LOVRECIC L,REMEC Z I,VOLK M,et al.Clinical microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities[J].Eur J Hum Genet,2013,21(7):725-730.
[14]汤雪薇,李发涛,李焱,等.QF-PCR检测性染色体不同的同卵双胎一例分析[J].中国优生与遗传杂志,2015,23(5):27-28.
[15]GILBERT B,YARDIN C,BRIAULT S,et al.Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome:implications for prenatal genetic counseling[J].Prenat Diagn,2002,22(8):697-702.
[16]周祎,张爱清.双胎妊娠中一胎异常的筛查诊断与处理[J].中国实用妇科与产科杂志,2015,31(7):597-602.
[2]国家卫生和计划生育委员会公益性行业科研专项《常见高危胎儿诊治技术标准及规范的建立与优化》项目组.双胎妊娠产前筛查与诊断技术规范(2017)[J].中国实用妇科与产科杂志,2017,33(8):810-813.
[3]中华人民共和国卫生部.产前诊断技术管理办法[J].中国妇幼保健,2003,14(1):274.
[4]染色体微阵列分析技术在产前诊断中的应用协作组.染色体微阵列分析技术在产前诊断中的应用专家共识.[J].中华妇产科杂志,2014,49(8):570-572.
[5]王挺,郭莉,陈汉彪,等.早期产前筛查中胎儿颈项透明层厚度与绒毛染色体异常的相关性研究[J].中华医学遗传学杂志,2016,33(2):264-265.
[6]王挺,黄华梅,胡晶晶,等.染色体核型分析联合超声检查对胎儿颈部淋巴水囊瘤预后评估[J].中国妇幼保健,2017,32(4):794-796.
[7]王游声,尹爱华,吴菁,等.改良同步化染色体培养技术在脐血产前诊断中的应用[J].中国妇幼保健,2016,31(9):1911-1912.
[8] AUDIBERT F,GAGNON A.Prenatal screening for and diagnosis of aneuploidy in twin pregnancies[J].J Obstet Gynaecol Can,2011,33(7):754-767.
[9] FOSLER L,WINTERS P,JONES K W,et al.Aneuploidy screening by non-invasive prenatal testing in twin pregnancy[J].Ultrasound Obstet Gynecol,2017,49(4):470-477.
[10]陈斐斐,廖灿.染色体微阵列分析在先天性泌尿系统畸形中的应用进展[J].中华围产医学杂志,2016,19(1):69-72.
[11]王游声,唐斌,郭莉,等.染色体核型分析及array_CGH在超声异常胎儿诊断中的应用[J].中华医学遗传学杂志,2017,34(4):550-553.
[12]刘静,席惠,王华,等.SNP_array在胎儿超声异常及孕妇不良生育史产前诊断中的应用研究[J].中华医学遗传学杂志,2017,34(2):173-177.
[13]LOVRECIC L,REMEC Z I,VOLK M,et al.Clinical microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities[J].Eur J Hum Genet,2013,21(7):725-730.
[14]汤雪薇,李发涛,李焱,等.QF-PCR检测性染色体不同的同卵双胎一例分析[J].中国优生与遗传杂志,2015,23(5):27-28.
[15]GILBERT B,YARDIN C,BRIAULT S,et al.Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome:implications for prenatal genetic counseling[J].Prenat Diagn,2002,22(8):697-702.
[16]周祎,张爱清.双胎妊娠中一胎异常的筛查诊断与处理[J].中国实用妇科与产科杂志,2015,31(7):597-602.